HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270431del , CM000668.2:g.31270431del | GRCh38 |
NC_000006.11:g.31238208del , CM000668.1:g.31238208del | GRCh37 |
NC_000006.10:g.31346187del | NCBI36 |
NG_029422.2:g.6701del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.674del MANE Select | ENSP00000365402.5:p.Leu225ArgfsTer15 | |
ENST00000376228.9:c.674del | ENSP00000365402.5:p.Leu225ArgfsTer15 | |
ENST00000376237.8:c.*261del | ENSP00000365412.4:n.*261del | |
ENST00000383329.7:c.674del | ENSP00000372819.3:p.Leu225ArgfsTer15 | |
ENST00000415537.1:c.664+8del | ||
ENST00000487245.5:n.1033del | ||
ENST00000495835.1:n.863del | ||
NM_002117.5:c.674del | NP_002108.4:p.Leu225ArgfsTer15 | |
NM_002117.6:c.674del MANE Select | NP_002108.4:p.Leu225ArgfsTer15 |